Neurofibromatosis 1 with invasive spinal cord compression (case report)

Abstract

Neurofibromatosis, being found as one incident in 2500-3000 births, is a genetic disease that involves either skin system, nervous system or both systems simultaneously and that leads to important cosmetic and functional disorders. Although, cervical cord compression is not frequently found in nervous system compression, nevertheless, it takes a very important place since it may lead to severe neurological deficits and it may be treated by combination of surgical intervention with physical medicine and rehabilitation in early stage. There are not many treatment options in the advanced cases. In our study, we aimed to discuss treatment approaches by evaluating a patient with complex case of neurofibromatosis in whom whole spinal cord is full of neurofibromas accompanied by cervical cord compression.

Orthopaedic manifestations of neurofibromatosis type 1: A case report

“…NF1 is a multisystem, autosomal dominant genetically transmitted disease, which influences the cell growth of neuronal tissues. NF1 is an inherited disorder relatively common, with family history being present in half of the cases, while the remaining cases develop a new genetic mutation, and it influences 1 in 2,500-3,000 births worldwide (6)(7)(8)(9)(10)(11)(12). The patients with clinical manifestations can be diagnosed by performing a careful examination.…”

“…NF1 is a multisystem, autosomal dominant genetically transmitted disease, also known as von Recklinghausen disease, which influences the cell growth of neuronal tissues. NF1 is an inherited disorder relatively common, family history being present in half of the cases, the rest developing a new genetic mutation, and it affects 1 in 2,500-3,000 births worldwide, regardless of sex and ethnicity (6)(7)(8)(9)(10)(11)(12).…”